1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022) Authors: Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour... Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies. Issue 1 (12th January 2021) Authors: Bocca, Cinzia; Le Paih, Victor; Chao de la Barca, Juan Manuel; Kouassy Nzoughet, Judith; Amati-Bonneau, Patrizia; Blanchet, Odile; Védie, Benoit; Géromin, Daniela; Simard, Gilles; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Orssaud, Christophe; Reynier, Pascal Journal: Human molecular genetics Issue: Volume 30:Issue 1(2021) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. (August 2015) Authors: Leman, Géraldine; Gueguen, Naïg; Desquiret-Dumas, Valérie; Kane, Mariame Selma; Wettervald, Céline; Chupin, Stéphanie; Chevrollier, Arnaud; Lebre, Anne-Sophie; Bonnefont, Jean-Paul; Barth, Magalie; Amati-Bonneau, Patrizia; Verny, Christophe; Henrion, Daniel; Bonneau, Dominique; Reynier, Pascal; P... Journal: International journal of biochemistry & cell biology Issue: Volume 65(2015:Aug.) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy. Issue 10 (4th April 2017) Authors: Kane, Mariame Selma; Alban, Jennifer; Desquiret‐Dumas, Valérie; Gueguen, Naïg; Ishak, Layal; Ferre, Marc; Amati‐Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Lenaers, Guy; Reynier, Pascal; Chevrollier, Arnaud Journal: Journal of cellular and molecular medicine Issue: Volume 21:Issue 10(2017) Page Start: 2284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CBMT-11. HIGH MITOCHONDRIAL DNA COPY NUMBER IS ASSOCIATED WITH LONGER SURVIVAL IN YOUNG PATIENTS WITH GLIOBLASTOMA. (11th November 2019) Authors: Rousseau, Audrey; Dardaud, Laure-Marie; Bris, Céline; Desquiret-Dumas, Valérie; Boisselier, Blandine; Tabouret, Emeline; Mokhtari, Karima; Figarella-Branger, Dominique; Procaccio, Vincent Journal: Neuro-oncology Issue: Volume 21(2019)Supplement 6 Page Start: vi35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone. Issue 8 (August 2016) Authors: Kauffenstein, Gilles; Tamareille, Sophie; Prunier, Fabrice; Roy, Charlotte; Ayer, Audrey; Toutain, Bertrand; Billaud, Marie; Isakson, Brant E.; Grimaud, Linda; Loufrani, Laurent; Rousseau, Pascal; Abraham, Pierre; Procaccio, Vincent; Monyer, Hannah; de Wit, Cor; Boeynaems, Jean-Marie; Robaye, Ber... Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 36:Issue 8(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Issue 2 (11th November 2019) Authors: Barcia, Giulia; Rio, Marlène; Assouline, Zahra; Zangarelli, Coralie; Gueguen, Naig; Dumas, Valerie D.; Marcorelles, Pascale; Schiff, Manuel; Slama, Abdelhamid; Barth, Magalie; Hully, Marie; de Lonlay, Pascale; Munnich, Arnold; Desguerre, Isabelle; Bonnefont, Jean‐Paul; Steffann, Julie; Procaccio,... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Issue 2 (7th April 2021) Authors: Charif, Majida; Gueguen, Naïg; Ferré, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Chevrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenège, David; Bris, Céline; Kane, Selma; Alban, Jennifer; Chupin, Stéphanie; Wetterwald, Céline; Caporali, Leonardo; Tagliavini, Francesca; LaMorgia, Ch... Journal: Brain communications Issue: Volume 3:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotype of DNAJC30‐associated Leigh syndrome. Issue 5 (29th July 2022) Authors: Zawadzka, Marta; Krygier, Magdalena; Pawłowicz, Małgorzata; Wilke, Matheus Vernet Machado Bressan; Rutkowska, Karolina; Gueguen, Naig; Desquiret‐Dumas, Valerie; Klee, Eric W.; Schimmenti, Lisa A.; Sławek, Jarosław; Procaccio, Vincent; Płoski, Rafał; Mazurkiewicz‐Bełdzińska, Maria Journal: Clinical genetics Issue: Volume 102:Issue 5(2022) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma. Issue 8 (26th April 2019) Authors: Dardaud, Laure-Marie; Bris, Céline; Desquiret-Dumas, Valérie; Boisselier, Blandine; Tabouret, Emeline; Mokhtari, Karima; Figarella-Branger, Dominique; Rousseau, Audrey; Procaccio, Vincent Journal: Neuro-oncology Issue: Volume 21:Issue 8(2019) Page Start: 1084 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗